E94K (p.Glu94Lys) variant of MCCC1 (Q96RQ3)
E94K (p.Glu94Lys) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
E94K (p.Glu94Lys) variant details
- p.Glu94Lys
- rs1717925328
- ClinGen CA355319654
- NCI-TCGA Cosmic COSV5561
- cosmic curated COSV55610
- Conflicting interpretations
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- AlphaMissense 0.13
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.42
- ClinVar: Conflicting classifications of pathogenicity (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available